Variant report

Variant	rs17688414
Chromosome Location	chr7:40840970-40840971
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:40839610..40841601-chr7:40845220..40847169,2	MCF-7	breast:

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10225209	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10225445	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10231324	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10231545	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10233069	0.93[AFR][1000 genomes];0.99[EUR][1000 genomes]
rs10235458	0.85[AFR][1000 genomes]
rs10243080	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10247275	0.83[ASN][1000 genomes]
rs10252053	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10268219	0.94[ASN][1000 genomes]
rs10272186	0.90[ASN][1000 genomes]
rs10272516	0.86[ASN][1000 genomes]
rs10276001	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10276629	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1115714	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1115715	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12666544	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12701835	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12701836	0.94[ASN][1000 genomes]
rs12701837	0.94[ASN][1000 genomes]
rs13237870	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13240894	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13243593	0.90[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs17530165	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17530213	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17621030	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17688285	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17770843	0.90[ASN][1000 genomes]
rs17770991	0.94[ASN][1000 genomes]
rs1921743	0.89[ASN][1000 genomes]
rs1921745	0.90[ASN][1000 genomes]
rs1921746	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1921747	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1921748	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1974547	0.94[ASN][1000 genomes]
rs2108375	0.95[AFR][1000 genomes];0.99[EUR][1000 genomes]
rs2108376	0.95[AFR][1000 genomes];0.99[EUR][1000 genomes]
rs2302025	0.94[ASN][1000 genomes]
rs2302026	0.90[ASN][1000 genomes]
rs34689844	0.95[AFR][1000 genomes];0.99[EUR][1000 genomes]
rs35146091	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35570092	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35628600	0.93[ASN][1000 genomes]
rs35712272	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36200804	0.91[ASN][1000 genomes]
rs3815265	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4050963	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4460274	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs59027414	0.88[ASN][1000 genomes]
rs62449401	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62449405	0.90[ASN][1000 genomes]
rs62449407	0.90[ASN][1000 genomes]
rs68023334	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73125791	0.90[ASN][1000 genomes]
rs763714	0.93[ASN][1000 genomes]
rs7784052	0.90[ASN][1000 genomes]
rs7801192	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7804009	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7807596	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7808211	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs886831	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030648	chr7:40218618-41032599	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv830972	chr7:40814709-40945917	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv830973	chr7:40816419-40851594	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:40832800-40841800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr7:40834000-40844200	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr7:40835400-40847800	Weak transcription	Aorta	Aorta
4	chr7:40835800-40844400	Weak transcription	HSMM	muscle
5	chr7:40838600-40841000	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr7:40839600-40841000	Enhancers	Skeletal Muscle Female	skeletal muscle
7	chr7:40839600-40841200	Enhancers	Skeletal Muscle Male	skeletal muscle
8	chr7:40839800-40844600	Weak transcription	Fetal Stomach	stomach
9	chr7:40840000-40844400	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr7:40840400-40841000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr7:40840400-40841000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr7:40840400-40841000	Enhancers	Brain Hippocampus Middle	brain
13	chr7:40840400-40841000	Enhancers	Fetal Heart	heart
14	chr7:40840400-40844200	Enhancers	NHDF-Ad	bronchial
15	chr7:40840600-40841000	Enhancers	Brain Inferior Temporal Lobe	brain
16	chr7:40840600-40841000	Enhancers	HSMMtube	muscle
17	chr7:40840600-40841800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr7:40840600-40842000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr7:40840600-40842400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr7:40840600-40842400	Enhancers	Osteobl	bone
21	chr7:40840800-40844400	Weak transcription	Brain Substantia Nigra	brain

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